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mosaic trisomy 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 20

MONDO:0015764

Also known as:Mosaic trisomy chromosome 20Mosaic trisomy type 20

Overview

Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.

ResearchLimited published research (8 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mosaic trisomy 20.

8 publications have been identified in PubMed for mosaic trisomy 20. Research spans Case Report / Case Series (75%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (13%).

Recent Publications

Chen CP (2026). [PMID: 41813405](https://pubmed.ncbi.nlm.nih.gov/41813405/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Frattini A (2025). [PMID: 39392177](https://pubmed.ncbi.nlm.nih.gov/39392177/). *Am J Med Genet A*. [Review / Meta-Analysis]
Chen CP (2025). [PMID: 40049833](https://pubmed.ncbi.nlm.nih.gov/40049833/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Yue SSK (2025). [PMID: 39572083](https://pubmed.ncbi.nlm.nih.gov/39572083/). *Gut*. [Basic Science / Preclinical]
Chen CP (2025). [PMID: 40602980](https://pubmed.ncbi.nlm.nih.gov/40602980/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Huang Y (2025). [PMID: 40799956](https://pubmed.ncbi.nlm.nih.gov/40799956/). *Pract Lab Med*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1724

GARD

Genetic and Rare Diseases Info Center

GARD:18744

Questions for Your Care Team

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mosaic trisomy 20

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team